C31* (p.Cys31Ter) variant of MYO7A (Unconventional myosin-VIIa)
C31* (p.Cys31Ter) in MYO7A (Unconventional myosin-VIIa) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
C31* (p.Cys31Ter) variant details
- p.Cys31Ter
- rs35689081
- ClinGen CA277965
- ClinVar RCV000012634
- ClinVar RCV000154341
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.272
- CADD 27.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the REMAINING population (allele frequency 6.6e-05)
- Structural context available
- Cited in: Twelve novel myosin VIIA mutations in 34 patients with Usher syndrome type I: confirmation of genetic heterogeneity. (PMID 10094549)
- Cited in: Myosin VIIA mutation screening in 189 Usher syndrome type 1 patients. (PMID 8900236)